A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557527



Internal ID16344936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328123..11404725hg38UCSC Ensembl
Innerchr12:11481057..11557659hg19UCSC Ensembl
Innerchr12:11372324..11448926hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3876603
hg1976603
hg1876603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2373n54
Supporting Variantsnssv1175421
Samples1780862224_A
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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